G408A (p.Gly408Ala) variant of CYBB (NADPH oxidase 2)
G408A (p.Gly408Ala) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
G408A (p.Gly408Ala) variant details
- p.Gly408Ala
- rs151344474
- ClinGen CA10383852
- ClinVar RCV002030441
- ExAC rs151344474
- Likely pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Population evidence available
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)